• Gene id: 1340

Gene Summary

• Gene Symbol: COX6B1   Gene   UCSC   Ensembl
• Aliases: COX6B, COXG, COXVIb1
• Gene name: cytochrome c oxidase subunit 6B1
• Alternate names: cytochrome c oxidase subunit 6B1, COX VIb-1, cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous),
• Gene location: 19q13.12 (35648322: 35658781)     Exons: 11     NC_000019.10
• Gene summary(Entrez): Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and
• OMIM: 124089

Protein Summary

• Protein general information: P14854  
  • Name: Cytochrome c oxidase subunit 6B1 (Cytochrome c oxidase subunit VIb isoform 1) (COX VIb 1)
  • Length: 86  
  • Mass: 10192
• Sequence:

  MAEDMETKIKNYKTAPFDSRFPNQNQTRNCWQNYLDFHRCQKAMTAKGGDISVCEWYQRVYQSLCPTSWVTDWDE
  QRAEGTFPGKI

• Structural information:
  • Protein Domains: (27..7-)
    (/note="CHCH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01150"-)
  • Interpro: IPR003213  IPR036549  
  • Prosite: PS51808
  • CDD: cd00926
  • PDB: 5Z62
  • PDBsum: 5Z62
  • STRING: ENSP00000246554
• Other Databases: GeneCards:  COX6B1  Malacards:  COX6B1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0045277	respiratory chain complex IV	IBA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006123	mitochondrial electron transport, cytochrome c to oxygen	TAS	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0006119	oxidative phosphorylation	IEA	biological process
GO:0021762	substantia nigra development	HEP	biological process
GO:0004129	cytochrome-c oxidase activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05012	Parkinson disease
hsa04714	Thermogenesis
hsa00190	Oxidative phosphorylation
hsa04932	Non-alcoholic fatty liver disease
hsa04260	Cardiac muscle contraction

Diseases

Associated diseases	References
Cytochrome c oxidase	KEGG:H01368
Cytochrome c oxidase	KEGG:H01368
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881